This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: EFHC1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001165891.1:p.Gln513His
CA364458183
NM_001172420.2:c.1539G>C
CA364458184
NM_001172420.2:c.1539G>T